ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1604dup (p.Leu536fs)

dbSNP: rs886041608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000395857 SCV000330304 pathogenic not provided 2016-03-15 criteria provided, single submitter clinical testing The c.1604dupG pathogenic variant in the KCNQ2 gene causes a frameshift starting with codonLeucine 536, changes this amino acid to a Proline residue and creates a premature Stop codon atposition 48 of the new reading frame, denoted p.Leu536ProfsX48. This pathogenic variant ispredicted to cause loss of normal protein function either through protein truncation or nonsensemediatedmRNA decay.

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